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http://hdl.handle.net/2445/123026
Title: | Transancestral mapping and genetic load in systemic lupus erythematosus |
Author: | Langefeld, Carl D. Ainsworth, Hannah C. Graham, Deborah S. Cunninghame Kelly, Jennifer A. Comeau, Mary E. Marion, Miranda C. Howard, Timothy D. Ramos, Paula S. Croker, Jennifer A. Morris, David L. Sandling, Johanna K. Almlöf, Jonas Carlsson Acevedo-Vásquez, Eduardo M. Alarcón, Graciela Babini, Alejandra M. Baca, Vicente Bengtsson, Anders A. Berbotto, Guillermo A. Bijl, Marc Brown, Elizabeth E. Brunner, Hermine I. Cardiel, Mario H. Catoggio, Luis Cervera i Segura, Ricard, 1960- Cucho-Venegas, Jorge M. Dahlqvist, Solbritt Rantapää D'Alfonso, Sandra Da Silva, Berta Martins de la Rúa Figueroa, Iñigo Doria, Andrea Edberg, Jeffrey C. Endreffy, Emóke Esquivel-Valerio, Jorge A. Fortin, Paul R. Freedman, Barry I. Frostegård, Johan García, Mercedes A. de la Torre, Ignacio García Gilkeson, Gary S. Gladman, Dafna D. |
Keywords: | Lupus eritematós Malalties autoimmunitàries Genètica humana Estudi de casos Lupus erythematosus Autoimmune diseases Human genetics Case studies |
Issue Date: | 17-Jul-2017 |
Publisher: | Nature Publishing Group |
Abstract: | Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (∼50% of these regions have multiple independent associations); these include 24 novel SLE regions (P<5 × 10-8), refined association signals in established regions, extended associations to additional ancestries, and a disentangled complex HLA multigenic effect. The risk allele count (genetic load) exhibits an accelerating pattern of SLE risk, leading us to posit a cumulative hit hypothesis for autoimmune disease. Comparing results across the three ancestries identifies both ancestry-dependent and ancestry-independent contributions to SLE risk. Our results are consistent with the unique and complex histories of the populations sampled, and collectively help clarify the genetic architecture and ethnic disparities in SLE. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/ncomms16021 |
It is part of: | Nature Communications, 2017, vol. 8, p. 16021 |
URI: | http://hdl.handle.net/2445/123026 |
Related resource: | https://doi.org/10.1038/ncomms16021 |
ISSN: | 2041-1723 |
Appears in Collections: | Articles publicats en revistes (Medicina) |
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